Canonical Allele Identifier: CA349406794

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530442T>A , CM000664.2:g.178530442T>A GRCh38
NC_000002.11:g.179395169T>A , CM000664.1:g.179395169T>A GRCh37
NC_000002.10:g.179103415T>A NCBI36
NG_011618.3:g.305361A>T , LRG_391:g.305361A>T
NG_051363.1:g.12616T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98469A>T (TTN) ENSP00000343764.6:p.Glu32823Asp
ENST00000342175.11:c.79554A>T (TTN) ENSP00000340554.6:p.Glu26518Asp
ENST00000359218.10:c.79353A>T (TTN) ENSP00000352154.5:p.Glu26451Asp
ENST00000342175.10:c.79554A>T (TTN) ENSP00000340554.6:p.Glu26518Asp
ENST00000342992.10:c.98469A>T (TTN) ENSP00000343764.6:p.Glu32823Asp
ENST00000359218.9:c.79353A>T (TTN) ENSP00000352154.5:p.Glu26451Asp
ENST00000460472.6:c.78978A>T (TTN) ENSP00000434586.1:p.Glu26326Asp
ENST00000589042.5:c.106173A>T (TTN) MANE Select ENSP00000467141.1:p.Glu35391Asp
ENST00000591111.5:c.101250A>T (TTN) ENSP00000465570.1:p.Glu33750Asp
ENST00000615779.4:c.101250A>T (TTN) ENSP00000483597.1:p.Glu33750Asp
NM_001256850.1:c.101250A>T (TTN) NP_001243779.1:p.Glu33750Asp
NM_001267550.2:c.106173A>T (TTN) MANE Select NP_001254479.2:p.Glu35391Asp
NM_003319.4:c.78978A>T (TTN) NP_003310.4:p.Glu26326Asp
NM_133378.4:c.98469A>T (TTN) NP_596869.4:p.Glu32823Asp
NM_133432.3:c.79353A>T (TTN) NP_597676.3:p.Glu26451Asp
NM_133437.4:c.79554A>T (TTN) NP_597681.4:p.Glu26518Asp
NR_038271.1:n.446+6806T>A (TTN-AS1)
NR_038272.1:n.220-5290T>A (TTN-AS1)
XM_011511729.1:c.105270A>T (TTN) XP_011510031.1:p.Glu35090Asp
XM_011511730.1:c.79164A>T (TTN) XP_011510032.1:p.Glu26388Asp
XM_011511731.1:c.79023A>T (TTN) XP_011510033.1:p.Glu26341Asp
XM_017004819.1:c.105066A>T (TTN) XP_016860308.1:p.Glu35022Asp
XM_017004820.1:c.100464A>T (TTN) XP_016860309.1:p.Glu33488Asp
XM_017004821.1:c.100461A>T (TTN) XP_016860310.1:p.Glu33487Asp
XM_017004822.1:c.97503A>T (TTN) XP_016860311.1:p.Glu32501Asp
XM_017004823.1:c.79119A>T (TTN) XP_016860312.1:p.Glu26373Asp
XM_024453094.1:c.100614A>T (TTN) XP_024308862.1:p.Glu33538Asp
XM_024453095.1:c.100611A>T (TTN) XP_024308863.1:p.Glu33537Asp
XM_024453096.1:c.100044A>T (TTN) XP_024308864.1:p.Glu33348Asp
XM_024453097.1:c.97386A>T (TTN) XP_024308865.1:p.Glu32462Asp
XM_024453098.1:c.97305A>T (TTN) XP_024308866.1:p.Glu32435Asp
XM_024453099.1:c.79068A>T (TTN) XP_024308867.1:p.Glu26356Asp
XM_024453100.1:c.68922A>T (TTN) XP_024308868.1:p.Glu22974Asp